Ethical Issues in Personalized Medicine - PowerPoint PPT Presentation

Loading...

PPT – Ethical Issues in Personalized Medicine PowerPoint presentation | free to view - id: befc-NjVmY



Loading


The Adobe Flash plugin is needed to view this content

Get the plugin now

View by Category
About This Presentation
Title:

Ethical Issues in Personalized Medicine

Description:

Human Genetics? (1913-1993) Gene therapy. Somatic. Germline 'Designer' babies ... Genetics may provide better understanding of pathophysiology and therapeutic targets ... – PowerPoint PPT presentation

Number of Views:1025
Avg rating:3.0/5.0
Slides: 27
Provided by: aps6
Category:

less

Write a Comment
User Comments (0)
Transcript and Presenter's Notes

Title: Ethical Issues in Personalized Medicine


1
Ethical Issues in Personalized Medicine
  • Jeffrey R. Botkin, M.D., M.P.H.
  • Professor of Pediatrics and Medical Ethics
  • Associate Vice President for Research

2
The Human Genome
February, 2001
3
Consequences of Human Genome Project
  • Technology available for detailed sequencing
  • Normal and abnormal sequence information
    available
  • Proliferation of genetic tests for DNA sequences
    associated with clinical conditions
  • Testing available before effective treatments or
    prevention available

4
ELSI Issues in Genetic Halfway Technologies
  • Challenges for genetic tests
  • Genome research many new tests
  • 1715 diseases for which there are tests
  • 1435 clinical tests
  • 280 research tests
  • Limited FDA oversight
  • Rapid transition from bench to bedside
  • Direct marketing of recreational genetic tests
  • Public/professional confidence in benefits of
    medical technology

5
Ethics and Genetics
  • 1990 Dr. James Watson announces that 3 - 5 of
    new human genome project budget will be devoted
    to ethical, legal, and social implications
  • ELSI Program
  • Why this allocation in genetics research?

6
Why the public concern over genetic technology?
7
Genetic Concepts
  • Genetic determinism
  • The notion that our genes determine our biology
    and behavior
  • Generally false even for Mendelian conditions
  • Genetic exceptionalism
  • The notion that genetic knowledge is different
    than other forms of knowledge in biology and
    medicine
  • Differences Family relationships, a history of
    abuse, beliefs in genetic determinism (genes as
    the blueprint)

8
Lewis Thomas, M.D.
  • The Technologies of Medicine
  • Non-technologies
  • Decisive technologies or high technologies
  • Immunizations
  • Halfway technologies
  • Dialysis
  • Human Genetics?

(1913-1993)
9
High Technology Power?
  • Gene therapy
  • Somatic
  • Germline
  • Designer babies
  • Reproductive cloning
  • Tissue engineering
  • Personalized medicine

Chris Blair
10
Single Gene vs Complex Diseases
  • Successful identification of genes associated
    with Mendelian disorders
  • Diagnostic testing
  • Predictive testing
  • Carrier testing
  • Prenatal diagnosis
  • Limited success with identifying major genes
    associated with complex conditions

11
Genetic Determinants of Obesity
  • Researchers Discover New Genetic Risk Factors
    Involved in Adult and Childhood Obesity
  • Comprehensive Study Uncovers Six Genetic Variants
    Associated With Body Mass Index

http//www.genome.gov/27529231 December 2008
12
Obesity Study
  • 32,000 individuals of European ancestry
  • 15 genome wide association studies identified
    and analyzed
  • 35 genetic variants identified that are
    associated with BMI
  • Results
  • The 1 of the population with the most
    obesity-causing variants estimated to be 10 lbs
    heavier than the 1 with the least number of
    variants

13
Common, Complex Conditions
  • To date, limited progress on identifying single
    genes or small gene sets that are strongly
    associated with common, important health
    conditions
  • Genetic tests may not provide valuable
    predictive information for these conditions
  • Genetics may provide better understanding of
    pathophysiology and therapeutic targets

14
Systems Biology
  • Institute for Systems Biology, Seattle
    Washington
  • Systems biology is the study of an organism,
    viewed as an integrated and interacting network
    of genes, proteins and biochemical reactions
    which give rise to life.

http//www.systemsbiology.org
15
Social and Policy Issues
  • Challenges will emerge from the complexity of
    individual technologies as applied in specific
    research, clinical, social, and public health
    contexts

16
ELSI Issues in Genetic Non-technologies
  • Information management -- Social and Policy
    Issues
  • Education and standards for MDs
  • Genetic counselors
  • Implications for family members
  • Responsibilities of physicians/counselors
  • in clinical care
  • Responsibilities of investigators in research
  • Privacy of genetic information

17
Evaluation of Genetic Tests
  • ACCE Framework
  • Analytic validity
  • Does the test detect what it is designed to
    detect?
  • Analytic sensitivity and specificity
  • False positives and false negatives
  • Clinical Validity
  • Does the test correctly identify those with the
    condition and those without the condition?
  • False positive and false negatives
  • Clinical Utility
  • Does screening/testing for the condition improve
    the outcome for the individual?
  • ELSI considerations
  • EGAPP initiative (CDC)

18
Validity/Utility
From Burke et al. AJMG 2001106233
Clinical Utility
Yes
No
MEN2
HD
Clinical Validity
High
HFE
ApoE
Low
MEN2 multiple endocrine neoplasia type 2 HD
Huntington disease HFE hereditary
hemochromatosis ApoE apoliproprotein alleles to
predict Alzheimer
19
Research Challenges
  • Development of research protocols to demonstrate
    the clinical validity and clinical utility of
    genetic tests
  • Requires an assessment of the impact of
    information on behavior and secondary impacts on
    morbidity and mortality
  • Questions about whether information per se, or
    non-patient impacts, have sufficient value to
    justify testing or screening
  • Newborn screening context

20
ELSI Concerns over Predictive Testing
  • Concerns over negative psychological impacts
    from genetic testing have not been borne out in
    research to date
  • Individual situations may justify concern
  • Individuals generally use genetic information in
    appropriate ways
  • The risk of insurance and employment
    discrimination is low
  • Fears over risks are a significant barrier to
    use of genetic tests

21
Insurance Discrimination
  • Long-standing concern of policy makers that
    predictive genetic testing will lead to insurance
    discrimination
  • The single most consistent concern expressed by
    those declining genetic testing
  • Health insurance a primary concern
  • Life and disability insurance also a concern
  • Isolated instances of insurance and employment
    discrimination

22
Insurance and Employment Discrimination
  • Genetic Information Non-discrimination Act
    (GINA) passed in 2008
  • Protects against use of genetic information in
    insurance and employment
  • HIPAA had protected against group discrimination
  • Federal employees protected
  • Many state laws in place
  • Efficacy of GINA remains to be demonstrated

23
Genetic information vs Privacy
Lin Z, et al. Science 2004305183
24
Re-Identification based on DNA sequence
information
  • Sequences are not intrinsically identifiable
  • Necessary to have a reference database that links
    sequence information to individual identifiers
  • Re-identification only important if sequence
    information carries important health information
  • Important health information must be revealed to
    someone who can use the information to harm the
    source individual

25
Group Discrimination/Stigma
  • Concerns about impacts of genetic information on
    social groups
  • Stigmatizing clinical conditions associated with
    defined social groups (Jewish mutations)
  • Return to genetic explanations for social
    problems
  • Poor mans pharmacogenomics presuming
    genotypes based on racial or ethnic background

26
ELSI for Genetic Testing
  • Genetics currently has limited power for the
    prevention and treatment of disease
  • Likely to provide more contributions over time
    perhaps through a systems approach
  • High value in better understanding basic biology
  • Expanded use of poorly validated tests due to
    limited oversight
  • Test validity and utility are serious concerns
  • Group impacts from genetic research
About PowerShow.com